International Angelman Day Date in the current year: February 15, 2024

Angelman syndrome (AS), also known as Angelman’s syndrome, is a genetic disorder caused by the loss of gene activity in a specific part of chromosome 15. Most cases of AS are caused by a new mutation rather than an inherited one. The syndrome was named after the British pediatrician Harry Angelman, who was the first to identify and describe the condition in the 1960s. He originally named it “happy puppet syndrome” but this old name is currently considered pejorative and hasn’t been used for decades.

Typical signs and symptoms of AS include severe developmental delay and speech impairment, ataxia (lack of motor coordination), and an unusually happy personality. Other common symptoms include a small head, seizures, and sleep disturbance. Some of these signs and symptoms usually become noticeable by 6–12 months of age but it may take more time to diagnose the syndrome.

Most individuals affected by AS do not develop speech beyond 5–10 words, but they tend to have strong non-verbal communication skills to make themselves understood (facial expressions, gestures, pointing, and signing if taught). They like human contact and crave social interaction; although people with AS don’t speak, they understand when spoken to.

There is no cure for AS. Treatment is symptomatic and may include anticonvulsants to control seizures, orthoses and physical therapy to help with walking, melatonin to improve sleep, occupational therapy to help with non-verbal communication, etc. Some symptoms, such as poor sleep patterns and hyperactivity, became less pronounced with age; the life expectancy of those with AS is close to normal.

International Angelman Day was launched in 2013 by two parents of children affected by the syndrome. They chose the date of February 15 because February is International Rare Disease Month and the number 15 is a reference to the 15th chromosome being affected in Angelman syndrome.

Since its inception, International Angelman Day has received the support of Angelman organizations around the globe, including the Angelman Syndrome Foundation, the Foundation for Angelman Syndrome Therapeutics (FAST), the Angelman Syndrome Alliance, and various national Angelman syndrome foundations. They organize events that aim to raise awareness of Angelman syndrome, support individuals with AS, their families and caregivers, facilitate Angelman research, and remember those with Angelman syndrome who have passed away.

You can observe International Angelman Day by learning more about the syndrome, donating to or volunteering at an organization that promotes Angelman research, and spreading awareness about the observance on social media with the hashtags #InternationalAngelmanDay and #WhatIsAngelman. If your loved one have been diagnosed with Angelman syndrome, consider sharing your story with others to show them that they are not alone and give them hope.